biology Down Trisomy 13
Written Assignment (clinical genetics
Go to the OMIM website and look up the disease you used during the first part of the online website project.
You should provide 2-4 double spaced pages about your genetic disease (see below for additional details).
Make sure you include more detailed background information (exp: symptoms, genetic components). This background should include more genetics specific and clinically relevant information.
Include any information on available clinical trials and treatments (You will want to click on the side menu under external links, ‘clinical resources’). Be sure to also look up your disease at ‘Clinicaltrials.gov’. You should describe at least one clinical trial. If there are no clinical trials listed, state that in your description.
Include any genetic testing or detection of the disease.
Please make sure that you are rewriting all information in your own words (this means
that you are not using quoted material). Do not copy and paste the text. Every sentence will
likely have an in-text citation.
If you link to any resources OUTSIDE of the OMIM website, you will need to cite that
reference specifically (example: if you go to clinicaltrials.gov to read about a trial for your
disease, you will need to reference that specific webpage and not OMIM).
There must be a reference page that includes a minimum of 6 references (in addition to
your textbook).
Let me know if you have any trouble finding the OMIM specific page for your disease of interest.
Note: This assignment should be typed 12 point font, CSE in-text citations, and one inch margins. Double spaced 2-4 pages (not including the reference page).
Make sure you have a reference section that uses the CSE style references. You will be uploading the paper to Turnitin on our joule page.
Basic Disease introduction (be sure to include more clinically relevant symptoms):
What is it? What are the symptoms? Prevalence?
Genetics:
How is it inherited (exp. Is it dominant? Recessive? X-linked?)? What chromosome is involved? What gene(s) is impacted and what is the location? How does this happen (exp. trisomy, monosomy, deletion? During meiosis?)? What does this change in the gene?
Cell Biology:
How does this affect DNA/RNA/Protein? What does the protein normally do? How is the cell affected?
Diagnosis/Testing/Screening:
Make sure to include more than one type of test. Be specific here.
Treatments:
Are there treatments available? Side effects? Are there current or completed clinical trials that address treatments?
Prognosis: Are there changes in survival rates with this disease or lifestyle changes with/without treatment? (Example: 80% of patients with xxx disease survive to age 50 with standard treatment described earlier)
Current Research: Application of research article (present at least one aspect recommended below *(note: this is in addition to the clinical trial description)
● Find a recent research article (5 years or less) related to this disease and present main points
● Find a research lab or other group investigating any aspect related to the disease and describe the type of research they are conducting
